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      Deep whole-genome sequencing of 100 southeast Asian Malays.

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          Abstract

          Whole-genome sequencing across multiple samples in a population provides an unprecedented opportunity for comprehensively characterizing the polymorphic variants in the population. Although the 1000 Genomes Project (1KGP) has offered brief insights into the value of population-level sequencing, the low coverage has compromised the ability to confidently detect rare and low-frequency variants. In addition, the composition of populations in the 1KGP is not complete, despite the fact that the study design has been extended to more than 2,500 samples from more than 20 population groups. The Malays are one of the Austronesian groups predominantly present in Southeast Asia and Oceania, and the Singapore Sequencing Malay Project (SSMP) aims to perform deep whole-genome sequencing of 100 healthy Malays. By sequencing at a minimum of 30× coverage, we have illustrated the higher sensitivity at detecting low-frequency and rare variants and the ability to investigate the presence of hotspots of functional mutations. Compared to the low-pass sequencing in the 1KGP, the deeper coverage allows more functional variants to be identified for each person. A comparison of the fidelity of genotype imputation of Malays indicated that a population-specific reference panel, such as the SSMP, outperforms a cosmopolitan panel with larger number of individuals for common SNPs. For lower-frequency (<5%) markers, a larger number of individuals might have to be whole-genome sequenced so that the accuracy currently afforded by the 1KGP can be achieved. The SSMP data are expected to be the benchmark for evaluating the value of deep population-level sequencing versus low-pass sequencing, especially in populations that are poorly represented in population-genetics studies.

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          Author and article information

          Journal
          Am J Hum Genet
          American journal of human genetics
          Elsevier BV
          1537-6605
          0002-9297
          Jan 10 2013
          : 92
          : 1
          Affiliations
          [1 ] Saw Swee Hock School of Public Health, National University of Singapore, Singapore 117597, Singapore.
          Article
          S0002-9297(12)00639-8
          10.1016/j.ajhg.2012.12.005
          3542459
          23290073
          3eb5104e-a746-4f64-a805-51a7815e01f3
          Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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